Literature DB >> 26239179

Inherited mtDNA variations are not strong risk factors in human prion disease.

Gavin Hudson1, James Uphill2, Holger Hummerich2, Janice Blevins3, Pierluigi Gambetti3, Inga Zerr4, John Collinge2, Simon Mead5, Patrick F Chinnery1.   

Abstract

Aside from variation in the prion protein gene, genetic risk factors for sporadic Creutzfeldt-Jakob disease remain elusive. Given emerging evidence implicating mitochondrial dysfunction in the pathogenesis of the disorders, we studied the role of inherited mitochondrial DNA variation in a 2255 sporadic prion disease cases and 3768 controls. Our analysis indicates that inherited mitochondrial DNA variation does not have a major role in the risk of developing the disorder.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  CJD; GWAS; Mitochondrial; Prion

Mesh：

Substances：

Year:  2015        PMID： 26239179      PMCID： PMC6542657          DOI： 10.1016/j.neurobiolaging.2015.07.005

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  20 in total

1.  mtDNA haplogroups and frequency patterns in Europe.

Authors:  A Torroni; M Richards; V Macaulay; P Forster; R Villems; S Norby; M L Savontaus; K Huoponen; R Scozzari; H J Bandelt
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits.

Authors:  S Purcell; S S Cherny; P C Sham
Journal:  Bioinformatics       Date:  2003-01       Impact factor: 6.937

3.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

Review 4.  Neurodegeneration and oxidative stress: prion disease results from loss of antioxidant defence.

Authors:  David R Brown
Journal:  Folia Neuropathol       Date:  2005       Impact factor: 2.038

5.  Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease.

Authors:  M S Palmer; A J Dryden; J T Hughes; J Collinge
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

Review 6.  Prion diseases of humans and animals: their causes and molecular basis.

Authors:  J Collinge
Journal:  Annu Rev Neurosci       Date:  2001       Impact factor: 12.449

7.  Complex I specific increase in superoxide formation and respiration rate by PrP-null mouse brain mitochondria.

Authors:  Andrew W J Paterson; John C Curtis; Nikki K Macleod
Journal:  J Neurochem       Date:  2007-11-12       Impact factor: 5.372

8.  A novel protective prion protein variant that colocalizes with kuru exposure.

Authors:  Simon Mead; Jerome Whitfield; Mark Poulter; Paresh Shah; James Uphill; Tracy Campbell; Huda Al-Dujaily; Holger Hummerich; Jon Beck; Charles A Mein; Claudio Verzilli; John Whittaker; Michael P Alpers; John Collinge
Journal:  N Engl J Med       Date:  2009-11-19       Impact factor: 91.245

9.  HECTD2 is associated with susceptibility to mouse and human prion disease.

Authors:  Sarah E Lloyd; Emma G Maytham; Hirva Pota; Julia Grizenkova; Eleni Molou; James Uphill; Holger Hummerich; Jerome Whitfield; Michael P Alpers; Simon Mead; John Collinge
Journal:  PLoS Genet       Date:  2009-02-13       Impact factor: 5.917

10.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Authors: 
Journal:  Nature       Date:  2007-06-07       Impact factor: 49.962
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